Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633316C>A , CM000665.2:g.120633316C>A | GRCh38 |
| NC_000003.11:g.120352163C>A , CM000665.1:g.120352163C>A | GRCh37 |
| NC_000003.10:g.121834853C>A | NCBI36 |
| NG_011957.1:g.54166G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1019G>T MANE Select | NP_000178.2:p.Ser340Ile |
| ENST00000283871.10:c.1019G>T MANE Select | ENSP00000283871.5:p.Ser340Ile |
| NM_000187.3:c.1019G>T | NP_000178.2:p.Ser340Ile |
| ENST00000283871.9:c.1019G>T | ENSP00000283871.5:p.Ser340Ile |
| ENST00000470321.1:n.359G>T | |
| ENST00000492108.5:c.298G>T | ENSP00000419838.1:n.298G>T |
| XM_005247412.1:c.794G>T | XP_005247469.1:p.Ser265Ile |
| XM_005247412.2:c.794G>T | XP_005247469.1:p.Ser265Ile |
| XM_017006277.2:c.596G>T | XP_016861766.1:p.Ser199Ile |